TIME Developmental Disorders

Researchers Zero in on the Best Way to Diagnose Autism

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Illustration by Sydney Rae Hass for TIME

What’s the most reliable way to know if your child has autism? Is it a genetic test? Or are more traditional behavioral assessments, which measure talking and social skills, more accurate? The latest research provides some answers

Autism is a complex developmental disorder, and diagnosing it properly usually involves a combination of different tests. In the latest issue of JAMA, scientists provide the most up-to-date assessment yet of which tests work best for detecting genetic mutations associated with certain kinds of autism. Categorizing the various forms of autism will be important to guide parents to the proper care, the researchers say.

Traditionally, autism is diagnosed with behavioral tests that assess whether kids are meeting developmental milestones, such as talking, interacting with their parents and siblings, and learning to give and take in social situations. In recent years, researchers have been working on other ways to detect and potentially diagnose autism. Scientists have identified more than 100 genes connected with a higher risk of developing autism.

MORE: Study Finds Possible Association Between Autism and Air Pollution

Stephen Scherer, director of the center for applied genomics and a professor at the Hospital for Sick Children in Toronto, and his colleagues conducted a comparison test to see how the genetic tests matched up, both against each other and against the more conventional behavioral evaluations.

They studied 258 children who were diagnosed with autism spectrum disorder; all had a form of genetic testing done that looks specifically at abnormalities in the chromosomes; some had more extensive genetic testing, called whole-exome sequencing.

MORE: How Brain Scans Can Diagnose Autism With 97% Accuracy

The two genetic tests were roughly equally capable—around 8-9%—of detecting autism. Regardless of the fact they perform similarly, however, more labs and clinicians are favoring whole-exome sequencing, says Scherer. That’s concerning because the two genetic tests pick up markers for different kinds of autism, and excluding the other test in favor of the more high-tech whole-exome sequencing would miss about half of the possible genetic predictors of autism. Together the two gene-based tests can diagnose nearly 16% of cases.

“We need to use both technologies now,” he says. “If we only used one, we would miss some important information.”

The tests aren’t cheap. The chromosome-based test costs about $500, and exome sequencing slightly more. Ideally, this research suggests, both tests would be done for any child referred to a developmental pediatricians who suspects autism. But the reality is that for now, insurers may not cover both.

Scherer’s group looked at how non-genetic evaluations matched up with the genetic testing. Using factors such as brain scans to look for physical differences that might indicate autism, they divided the children into three groups based on whether they possessed physical anomalies or not. Among children with more physical abnormalities, the two types of genetic testing together diagnosed autism in 37.5% of cases.

MORE: Autism Rises: More Children than Ever Have Autism, but Is the Increase Real?

That suggests that the most accurate diagnosis of autism may come from combining all three types of tests. Not only that, says Scherer, but such testing can also categorize the type of autism that a child may have. “We need to start looking at each autism case individually, and come up with the best recommendations,” he says.

For now, based on the results of the study, he recommends that behavioral testing be the first step. Then, the chromosomal test should be done to see if it yields any additional information about a connection to autism. Even if it does not, that doesn’t mean that there aren’t genetic factors in play. If the chromosomal test is negative, Scherer argues that in some cases the whole exome sequencing might be useful.

Working with genetic counselors can help parents decide if and when this type of genetic testing is needed. “The message is that we need to use all technologies to get as much detailed information as we can to marry them all together,” he says.

TIME Innovation

The U.S. Foreign Service Is ‘Too White’

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

These are today's best ideas

1. Two top diplomats have a message about America’s foreign service: It’s “too white.” (From May 19, 2015)

By Thomas R. Pickering and Edward J. Perkins in the Washington Post

2. Charleston and the age of Obama. (From June 19, 2015)

By David Remnick in the New Yorker

3. California has about one year of water left. (From March 18, 2015)

By Jay Famiglietti in the Los Angeles Times

4. The prison system is costly and rarely “rehabilitates” prisoners. Imagine a better way to transition inmates to freedom. (From March 20, 2015)

By Mark A.R. Kleiman, Angela Hawken, & Ross Halperin in Vox

5. A new discovery about the brain and immune system could unlock autism, Alzheimers and more. (From June 19, 2015)

By Josh Barney at the UVA Today

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

TIME Ideas hosts the world's leading voices, providing commentary and expertise on the most compelling events in news, society, and culture. We welcome outside contributions. To submit a piece, email ideas@time.com.

TIME celebrity

Jim Carrey Apologizes for Using Photo of Autistic Boy in Anti-Vaccination Tweet

Jim Carrey at LACMA's 50th Anniversary Gala in Los Angeles on April 18, 2015.
Axelle/Bauer-Griffin—FilmMagic/Getty Images Jim Carrey at LACMA's 50th Anniversary Gala in Los Angeles on April 18, 2015.

Carrey's tweets opposed a California law that removes personal-belief exemptions for child immunizations

Jim Carrey apologized Thursday night for posting a photo of an autistic boy without permission in his anti-vaccination Twitter rant.

Carrey used the picture as part of a series of tweets he posted against a California law that removes personal-belief exemptions for child immunizations. The picture has been removed, but according to a post by the boy’s aunt, the tweet read: “A trillion dollars buys a lot of expert opinions. Will it buy you? TOXIN FREE VACCINES, A REASONABLE REQUEST!”

Karen Echols, the mother of the boy in the photo, tweeted to Carrey, telling him to remove the photo, and Carrey later apologized.

The boy’s aunt posted a screenshot of Carrey’s tweet in an effort to persuade him to remove the tweet. She stated in the post that her nephew, who she says is named Alex Echols, was diagnosed with autism before he was vaccinated. She considered Carrey’s tweet to be a mockery of Alex.

Carrey isn’t the only celebrity with strong anti-vaccination thoughts. His former girlfriend Jenny McCarthy, along with Donald Trump and Charlie Sheen, also shares similar views about autism’s link to vaccinations.

This article originally appeared on The Hollywood Reporter

More from The Hollywood Reporter:

TIME People

Doctor Who Opposed Vaccines Found Dead in Apparent Suicide

He was known for publishing controversial research suggesting a link between vaccines and autism

Dr. Jeff Bradstreet, an anti-vaccine physician, has been found dead in what police believe is a suicide.

Bradstreet died of what authorities say appears to be a self-inflicted gun shot to the chest, the Associated Press reports. His body was found by a fisherman on June 19 in Rocky Broad River in Chimney Rock, N.C. Authorities also found a handgun in the water.

Bradstreet, who is from Georgia, published controversial research suggesting a link between vaccines and autism. The claim has been widely disproved in the medical community. His family is raising money to investigate his death.

Officials are still investigating as well.

[AP]

TIME Innovation

Why Bank Branches Still Matter

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

These are today's best ideas

1. If you’re old or poor, bank branches still matter.

By Melvin Backman in Quartz

2. Street-by-street health tracking can help you avoid the flu.

By Patrick Kulp in Mashable

3. Is the U.S. Border Patrol above the law?

By Brian Bennett in the Los Angeles Times

4. How an ex-inmate turned entrepreneur helps families of prisoners stay in touch.

By Teodora Zareva in Big Think

5. The brain’s secret link to our immune system could unlock autism, Alzheimers and more.

By Josh Barney at UVA Today

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

TIME Ideas hosts the world's leading voices, providing commentary and expertise on the most compelling events in news, society, and culture. We welcome outside contributions. To submit a piece, email ideas@time.com.

TIME Research

What If People With Autism Are Actually Hyperfunctional?

An unconventional theory for autism shows promise in a new study in rats

Most people who think about autism think of people who struggle or are inept in some ways, especially when it comes to social behaviors. But there’s growing evidence that the autistic brain may actually be more super-wired to detect and absorb cues from the outside world.

Now, a new study published in the journal Frontiers in Neuroscience suggests that the brains of people with autism are actually hyperfunctional rather than stunted or impaired, and that if treated early in a very predictable environment, symptoms could diminish.

In 2007, researchers Kamila Markram, Henry Markram, and Tania Rinaldi developed an alternative theory for what autism is, called the “Intense World Syndrome.” They believe that autism is not some form of mental deficit, but that the brain is actually supercharged and hyperfunctional. This makes stimuli overwhelming to people with autism, causing them to socially and emotionally withdraw as a mode of self-protection.

In the new study, researchers at the Swiss Federal Institute of Technology in Lausanne (EPFL), including Henry Markram and Kamila Markram, showed how autism might be treated following this theory.

The researchers took a group of rats and exposed them to a drug called valproate (VPA), which is a process commonly used to model autism in the rodents. The researchers then exposed the rats to three different environments. The first was a standard environment: a typical laboratory cage. The second was a unpredictable enriched environment, which had things like a running wheel, toys and places to hide. In this environment, the researchers would regularly clean the cages, change out the toys and reorganize the space. The third was a predictable enriched environment, which had stimuli like toys and a running wheel, but after every cleaning the cage remained the same and nothing was moved out of place.

The researchers found that rats exposed to VPA were more sensitive to their living environments compared to control rats. The VPA-exposed rats living in the predictable environment did not develop the same emotional behaviors like anxiety and fear that the VPA-exposed mice living in the unpredictable environment or the standard environment did. The researchers concluded that an unpredictable or impoverished environment exacerbates the autism-like symptoms in rats, but a very predictable environment can prevent these symptoms from developing.

Though the study is still preliminary and was done in rats and not humans, Kamila Markram says she thinks it does have implications for how children with autism might be treated in the future. “Many therapies do recognize that structure and predictability is important, but none of the approaches has put this at the center,” she says. “We say you have to put it at the center and you need to be addressing sensory overflow.”

MORE Temple Grandin: What’s Right With the Autistic Brain

In the ideal scenario, Markram says kids with autism could be diagnosed when they are very young and then raised in a very stable and predictable environment. “You would approach the child from the same direction, books are on the same shelf, toys are always in the same place,” she says.

Markam says that it’s also necessary to change the way people view the disorder as a whole. “It’s important to us that we move away from the autism as a deficit model. These children are hyperfunctional and they can’t bear their environment,” says Markan. “If you have that view, it changes the way you look at research. If you’re a parent, you’ll treat your child in a different way.”

TIME neuroscience

Game-Changing Discovery Links the Brain and the Immune System

New research could affect how we approach everything from Alzheimer's to autism

Researchers at the University of Virginia School of Medicine have made a dazzling discovery, published this week in Nature: the brain is directly connected to the immune system by previously unknown vessels.

“The first time these guys showed me the basic result, I just said one sentence: ‘They’ll have to change the textbooks,'” Kevin Lee, chairman of the UVA Department of Neuroscience, told Science Daily. He added that the discovery “will fundamentally change the way people look at the central nervous system’s relationship with the immune system.”

The discovery of these new vessels has enormous implications for every neurological disease with an immune component, from Alzheimer’s to multiple sclerosis. It could open up entirely new avenues for research and treatment alike, all stemming from the kind of discovery that has become extraordinarily rare in the 21st century.

“I really did not believe there are structures in the body that we are not aware of. I thought the body was mapped,” said director of UVA’s Center for Brain Immunology and Glia Jonathan Kipnis, who worked on the research. “I thought that these discoveries ended somewhere around the middle of the last century. But apparently they have not.”

Read more at Science Daily

TIME Drugs

Autistic Adults Could Take Ecstasy to Reduce Anxiety

The drug has also been tested as a treatment for post-traumatic stress disorder

Researchers are interested in seeing whether taking ecstasy could reduce social anxiety in autistic adults.

A team laid out their proposed study in Science Direct, saying that MDMA, the medical name for Ecstasy, could increase social adaptability in autistic adults and that clinical use of the drug would be far safer than street use of Ecstasy or Molly.

The abstract talks about “MDMA’s capacity to help people talk openly and honestly about themselves and their relationships, without defensive conditioning intervening,” as well as its ability to decrease fear and anxiety in people on the drug. It is a popular party or rave drug because it is known to increase energy and euphoria in the user.

The study would examine whether MDMA could be used to reduce anxiety in autistic adults, not used as a treatment for autism itself. The drug is also studied as a treatment for other anxiety disorders, including post-traumatic stress disorder.

MDMA has been illegal in the United States since the 1980s.

TIME Research

Study Finds Possible Association Between Autism and Air Pollution

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Getty Images

Research suggests that early exposure to air pollution may have wide-ranging negative effects

A new study from the University of Pittsburgh suggests that exposure to fine particulate air pollution from pregnancy up and through the first two years of childhood may be linked with developing autism spectrum disorder (ASD).

Researchers from the University of Pittsburgh’s Graduate School of Public Health conducted “a population-based, case-control study” of families living in southwestern Pennsylvania, which included children with and without ASD, reports Science Daily.

The research team was then able to estimate an individual’s exposure to specific categories of air pollution based on where their mothers lived before, during and after pregnancy.

“There is increasing and compelling evidence that points to associations between Pittsburgh’s poor air quality and health problems, especially those affecting our children and including issues such as autism spectrum disorder and asthma,” said Grant Oliphant, president of the Heinz Endowments, which funded the research project.

However, the members of the study stressed that their findings “reflect an association” but does not ultimately prove causality.

[Science Daily]

TIME Innovation

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5. The next big idea for ending poverty is thinking small.

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The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

TIME Ideas hosts the world's leading voices, providing commentary and expertise on the most compelling events in news, society, and culture. We welcome outside contributions. To submit a piece, email ideas@time.com.

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